Results 71 to 80 of about 9,297 (176)

SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2

EMBO Molecular Medicine
Activating mutations of Src homology-2 domain-containing protein tyrosine phosphatase-2 (Shp2) cause multiple childhood conditions for which there is an unmet therapeutic need, including juvenile myelomonocytic leukemia (JMML) and Noonan syndrome. SFX-01,
Hyun-Ju Cho, Joy Smith, Christopher H Switzer, Eleni Louka, Rebecca L Charles, Oleksandra Prysyazhna, Ewald Schroder, Mariana Fernandez-Caggiano, Daniel Simoes de Jesus, Seda Eminaga, Xiaoke Yin, Xiaoping Yang, Steven Lynham, Manuel Mayr, Valle Morales, Katiuscia Bianchi, Vinothini Rajeeve, Pedro R Cutillas, Adam J Mead, Philip Eaton   +19 more
doaj   +1 more source

Noonan′s Syndrome

Indian Journal of Dermatology, 1995
Noonan’s syndrome is characterized by hypertelorism, webbed neck, curly or wooly hair, congenital heart defects, micrognathia and low set ears.
Yesudian P Devakar, Nambi Rabindranath, Krishnan S.G.S, Jayaraman M, Janaki V.R   +4 more
doaj  

Noonan-Syndrom

Swiss Medical Forum ‒ Schweizerisches Medizin-Forum, 2022
Dierk A. Vagts, Heike Kaltofen, Uta Emmig, Peter Biro   +3 more
openaire   +2 more sources

Noonan syndrome (Case report)

مجله دانشگاه علوم پزشکی گرگان, 1999
The term Noonan syndrome has been applied to phenotypic male and female who have certain anomalies that occur also in female with Turner’s syndrome. These patients have normal karyotype. The disorder is very rare.
Mohammadian S (MD), Bazrafshan HR (MD)
doaj  

Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1-Related Noonan Syndrome (p.Ser257Leu): A Case Report. [PDF]

Clin Case Rep
Nilsson CN, Aljohani OA, Smith MA, Durand R, Sheyanth IN, Nawaytou H, Stieglitz E, Valle R, Datar SA.   +8 more
europepmc   +1 more source

Blunt Trauma-Induced Chylothorax in Noonan Syndrome: A Rare Clinical Presentation. [PDF]

Cureus
Wiblin R, Kaiser C, Kantzler E, Sidhwa F.   +3 more
europepmc   +1 more source

Heterogeneity of Orodental Features in a Family with Noonan Syndrome. [PDF]

Int J Mol Sci
Antal G, Csabai L, Zsigmond A, Szanto I, Hadzsiev K, Bene J.   +5 more
europepmc   +1 more source

Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study. [PDF]

Diagnostics (Basel)
Nazarie FV, Dobrescu MA, Lazea C, David AA, Șufană C, Bucerzan S, Cainap SS, Rancea R, Stănoiu-Pînzariu O, Pascanu IM, Popp RA, Pop LA, Lazăr C, Alkhzouz C, Miclea D, Vulturar R.   +15 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review. [PDF]

Prenat Diagn
Martineau R, Wells C, Fuchs F, Collardeau-Frachon S, Ruault V, Colomb S, Faure JM, Bartholmot C, Vincenti M, Ganne B, Willems M.   +10 more
europepmc   +1 more source

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study. [PDF]

Mol Autism
McGhee CA, Plank JR, Pannone L, Russo O, Fuhrmann N, Ruggeri A, Radio FC, Martinelli S, Tartaglia M, Green T.   +9 more
europepmc   +1 more source